Non-chromatographic screening test for hyperprolinemia.

Identification of PRODH mutations in Korean neonates with type I hyperprolinemia.

BACKGROUND Hyperprolinemia is a rare inherited metabolic disorder characterized by a high proline level in blood and/or urine and various neuropsychiatric symptoms. Type I hyperprolinemia is caused by a proline oxidase deficiency, which is encoded by the PRODH gene on chromosome 22q11. Herein, we present a study of Korean patients with type I hyperprolinemia who were diagnosed during newborn sc...

PRODH mutations and hyperprolinemia in a subset of schizophrenic patients.

The increased prevalence of schizophrenia among patients with the 22q11 interstitial deletion associated with DiGeorge syndrome has suggested the existence of a susceptibility gene for schizophrenia within the DiGeorge syndrome chromosomal region (DGCR) on 22q11. Screening for genomic rearrangements of 23 genes within or at the boundaries of the DGCR in 63 unrelated schizophrenic patients and 6...

Biochemical and clinical features of hereditary hyperprolinemia

There are two classifications of hereditary hyperprolinemia: type I (HPI) and type II (HPII). Each type is caused by an autosomal recessive inborn error of the proline metabolic pathway. HPI is caused by an abnormality in the proline-oxidizing enzyme (POX). HPII is caused by a deficiency of Δ-1-pyrroline-5-carboxylate (P5C) dehydrogenase (P5CDh). The clinical features of HPI are unclear. Nephro...

Motion Screening Test Scores for Female Student Athletes and Non-Athletes

Screening for Non-polyenic Antifungal Produced by Actinobacteria from Moroccan Habitats: Assessment of Antimycin A19 Production by Streptomyces albidoflavus AS25

Fungal diseases are currently a serious public health problem, due to the limited number of really effective principles, and the emergence of resistant strains to the polyenic antifungals. The aim of this study was to screen, for non-polyenic antifungals production by Actinobacteria, and to validate the screening program by characterizing the produced compounds. Actinobacteria isolates were tes...